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Aliases for HELZ2 Gene

Aliases for HELZ2 Gene

  • Helicase With Zinc Finger 2 2 3 5
  • Helicase With Zinc Finger 2, Transcriptional Coactivator 2 3 4
  • Peroxisomal Proliferator-Activated Receptor A-Interacting Complex 285 KDa Protein 3 4
  • PPAR-Gamma DNA-Binding Domain-Interacting Protein 1 3 4
  • PPAR-Alpha-Interacting Complex Protein 285 3 4
  • PPARG-DBD-Interacting Protein 1 2 3
  • ATP-Dependent Helicase PRIC285 3 4
  • PRIC285 3 4
  • PDIP1 3 4
  • Peroxisomal Proliferator-Activated Receptor Alpha-Interacting Cofactor Complex, 285 KD Subunit 3
  • Peroxisomal Proliferator Activated Receptor A Interacting Complex 285 2
  • Peroxisomal Proliferator-Activated Receptor A Interacting Complex 285 3
  • PPARgamma-DNA-Binding Domain-Interacting Protein1 3
  • PPAR Gamma DBD-Interacting Protein 1 3
  • PPAR-Gamma DBD-Interacting Protein 1 4
  • Helicase With Zinc Finger Domain 2 3
  • PRIC Complex 3
  • EC 3.6.4.- 4
  • KIAA1769 4
  • PDIP-1 3

External Ids for HELZ2 Gene

Previous GeneCards Identifiers for HELZ2 Gene

  • GC20M062190

Summaries for HELZ2 Gene

Entrez Gene Summary for HELZ2 Gene

  • The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for HELZ2 Gene

HELZ2 (Helicase With Zinc Finger 2) is a Protein Coding gene. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include poly(A) RNA binding and ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is UPF1.

UniProtKB/Swiss-Prot for HELZ2 Gene

  • Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.

Gene Wiki entry for HELZ2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HELZ2 Gene

Genomics for HELZ2 Gene

Regulatory Elements for HELZ2 Gene

Enhancers for HELZ2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F063893 1.7 FANTOM5 Ensembl ENCODE 5.8 -323.7 -323653 7.8 HDGF PKNOX1 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 MIR647 MIR1914 GMEB2 PRPF6 RGS19 RTEL1 OPRL1 ZBTB46 C20orf181 SRMS
GH20F063630 1.7 FANTOM5 Ensembl ENCODE 5.7 -62.9 -62861 12.4 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 LIME1 STMN3 GMEB2 ENSG00000237371 RTEL1 HELZ2 TNFRSF6B PCMTD2 FNDC11 ZGPAT
GH20F063802 1.2 FANTOM5 Ensembl ENCODE 7.6 -229.4 -229384 2.0 PKNOX1 SCRT2 MAX KDM1A MYC CREM SPI1 RGS19 HELZ2 TPD52L2 DNAJC5 OPRL1 ZGPAT GMEB2 PIR49937 PIR52893
GH20F063853 1.7 FANTOM5 Ensembl ENCODE 2.8 -283.8 -283846 9.4 HDGF PKNOX1 MLX ARID4B DMAP1 SLC30A9 ZNF766 ZNF207 FOS PAF1 ZBTB46 ZBTB46-AS1 DNAJC5 ABHD16B UCKL1 SAMD10 HELZ2 GC20M063809
GH20F063611 1.3 FANTOM5 Ensembl ENCODE 2.4 -38.5 -38486 1.6 CTCF TFAP4 SAP130 MAX ZNF644 RAD21 TEAD3 RARA NR2F6 GATAD2A FNDC11 SRMS PTK6 STMN3 RGS19 LIME1 OPRL1 GMEB2 HELZ2 TPD52L2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HELZ2 on UCSC Golden Path with GeneCards custom track

Promoters for HELZ2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001839236 139 1401 ELF3 TBP ZNF76 KLF17 ARID4B GLIS2 ZNF143 KLF7 CREM THAP11

Genomic Location for HELZ2 Gene

Chromosome:
20
Start:
63,558,086 bp from pter
End:
63,574,239 bp from pter
Size:
16,154 bases
Orientation:
Minus strand

Genomic View for HELZ2 Gene

Genes around HELZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HELZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HELZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HELZ2 Gene

Proteins for HELZ2 Gene

  • Protein details for HELZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYK8-HELZ2_HUMAN
    Recommended name:
    Helicase with zinc finger domain 2
    Protein Accession:
    Q9BYK8
    Secondary Accessions:
    • Q3C2G2
    • Q4VXQ1
    • Q8TEF3
    • Q96ND3
    • Q9C094

    Protein attributes for HELZ2 Gene

    Size:
    2649 amino acids
    Molecular mass:
    294651 Da
    Quaternary structure:
    • Interacts with PPARA (via DNA-binding domain) and PPARG; the interaction stimulates the transcriptional activity of PPARA and PPARG. Interacts with THRAP3; the interaction is direct and HELZ2 and THRAP3 synergistically enhance the transcriptional activity of PPARG. It is probably part of the peroxisome proliferator activated receptor alpha interacting complex (PRIC).
    SequenceCaution:
    • Sequence=BAB70969.1; Type=Frameshift; Positions=2206; Evidence={ECO:0000305};

    Alternative splice isoforms for HELZ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELZ2 Gene

Post-translational modifications for HELZ2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HELZ2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HELZ2 Gene

Domains & Families for HELZ2 Gene

Gene Families for HELZ2 Gene

Protein Domains for HELZ2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BYK8

UniProtKB/Swiss-Prot:

HELZ2_HUMAN :
  • Contains 5 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. These motifs are not required for interaction with PPARG.
  • Belongs to the DNA2/NAM7 helicase family.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • Contains 5 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. These motifs are not required for interaction with PPARG.
Family:
  • Belongs to the DNA2/NAM7 helicase family.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with HELZ2: view

Function for HELZ2 Gene

Molecular function for HELZ2 Gene

UniProtKB/Swiss-Prot Function:
Helicase that acts as a transcriptional coactivator for a number of nuclear receptors including PPARA, PPARG, THRA, THRB and RXRA.

Enzyme Numbers (IUBMB) for HELZ2 Gene

Gene Ontology (GO) - Molecular Function for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 16239304
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with HELZ2: view
genes like me logo Genes that share phenotypes with HELZ2: view

Animal Models for HELZ2 Gene

MGI Knock Outs for HELZ2:

Animal Model Products

miRNA for HELZ2 Gene

miRTarBase miRNAs that target HELZ2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HELZ2 Gene

Localization for HELZ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELZ2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HELZ2 gene
Compartment Confidence
nucleus 5
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with HELZ2: view

Pathways & Interactions for HELZ2 Gene

genes like me logo Genes that share pathways with HELZ2: view

Gene Ontology (GO) - Biological Process for HELZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0044255 cellular lipid metabolic process TAS --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 16239304
genes like me logo Genes that share ontologies with HELZ2: view

No data available for SIGNOR curated interactions for HELZ2 Gene

Transcripts for HELZ2 Gene

Unigene Clusters for HELZ2 Gene

Helicase with zinc finger 2, transcriptional coactivator:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HELZ2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
SP1: -
SP2: -
SP3:
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HELZ2 Gene

GeneLoc Exon Structure for
HELZ2
ECgene alternative splicing isoforms for
HELZ2

Expression for HELZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HELZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HELZ2 Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for HELZ2 Gene

This gene is overexpressed in Breast (25.0), Serum (17.2), and Synovial fluid (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HELZ2 Gene



NURSA nuclear receptor signaling pathways regulating expression of HELZ2 Gene:

HELZ2

SOURCE GeneReport for Unigene cluster for HELZ2 Gene:

Hs.517180

mRNA Expression by UniProt/SwissProt for HELZ2 Gene:

Q9BYK8-HELZ2_HUMAN
Tissue specificity: Expressed in various tissues including heart, pancreas, skeletal muscle, colon, spleen, liver, kidney, lung, peripheral blood and placenta.
genes like me logo Genes that share expression patterns with HELZ2: view

Primer Products

No data available for Protein tissue co-expression partners for HELZ2 Gene

Orthologs for HELZ2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HELZ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HELZ2 34 35
  • 98.83 (n)
dog
(Canis familiaris)
Mammalia HELZ2 34 35
  • 80.61 (n)
rat
(Rattus norvegicus)
Mammalia Helz2 34
  • 75.58 (n)
mouse
(Mus musculus)
Mammalia Helz2 34 16 35
  • 74.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 55 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HELZ2 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves HELZ2 34 35
  • 59.67 (n)
lizard
(Anolis carolinensis)
Reptilia HELZ2 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733680 34
  • 55.12 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC562461 34
  • 48.63 (n)
HELZ2 (1 of 3) 35
  • 47 (a)
OneToMany
helz2 35
  • 37 (a)
OneToMany
HELZ2 (2 of 3) 35
  • 35 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.71 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAM7 35
  • 22 (a)
OneToMany
Species where no ortholog for HELZ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HELZ2 Gene

ENSEMBL:
Gene Tree for HELZ2 (if available)
TreeFam:
Gene Tree for HELZ2 (if available)

Paralogs for HELZ2 Gene

Paralogs for HELZ2 Gene

(2) SIMAP similar genes for HELZ2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HELZ2: view

Variants for HELZ2 Gene

Sequence variations from dbSNP and Humsavar for HELZ2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs111145053 -- 63,559,787(+) GTCAG(A/G)GTCAG intron-variant
rs111169843 -- 63,559,613(+) GTCAG(A/G)TGGGA intron-variant
rs111169845 -- 63,559,628(+) GTCAG(A/G)GTCAG intron-variant
rs111245218 -- 63,565,931(+) TGCCT(C/T)GGGGA reference, missense
rs111294786 -- 63,572,700(+) CCCTC(C/T)CTGGG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HELZ2 Gene

Variant ID Type Subtype PubMed ID
nsv9825 CNV gain 18304495
nsv953306 CNV deletion 24416366
nsv834034 CNV loss 17160897
nsv586578 CNV loss 21841781
nsv586573 CNV loss 21841781
nsv586571 CNV loss 21841781
nsv521734 CNV loss 19592680
nsv517702 CNV loss 19592680
nsv473307 CNV novel sequence insertion 20440878
nsv470563 CNV loss 18288195
nsv179406 CNV insertion 16902084
nsv1148402 CNV deletion 26484159
esv3336842 CNV duplication 20981092
esv2758806 CNV gain+loss 17122850
esv2722945 CNV deletion 23290073
esv2722944 CNV deletion 23290073
esv2722943 CNV deletion 23290073
esv2722938 CNV deletion 23290073
esv2722937 CNV deletion 23290073
esv2674115 CNV deletion 23128226
esv24758 CNV gain 19812545
esv1344882 CNV insertion 17803354
esv1272786 CNV insertion 17803354
esv1000908 CNV insertion 20482838
dgv7669n54 CNV loss 21841781
dgv7668n54 CNV loss 21841781
dgv7667n54 CNV loss 21841781
dgv679e201 CNV deletion 23290073
dgv522n27 CNV loss 19166990
dgv521n27 CNV loss 19166990
dgv35n64 CNV loss 17921354

Variation tolerance for HELZ2 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.40; 95.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HELZ2 Gene

Human Gene Mutation Database (HGMD)
HELZ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELZ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HELZ2 Gene

Disorders for HELZ2 Gene

Relevant External Links for HELZ2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HELZ2

No disorders were found for HELZ2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELZ2 Gene

Publications for HELZ2 Gene

  1. Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the DNA-binding domain of peroxisome proliferator-activated receptor gamma. (PMID: 16239304) Tomaru T. … Mori M. (Endocrinology 2006) 2 3 4 22 64
  2. Identification of a transcriptionally active peroxisome proliferator- activated receptor alpha-interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator. (PMID: 12189208) Surapureddi S. … Reddy J.K. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 64
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  4. THRAP3 interacts with HELZ2 and plays a novel role in adipocyte differentiation. (PMID: 23525231) Katano-Toki A. … Mori M. (Mol. Endocrinol. 2013) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for HELZ2 Gene

Sources for HELZ2 Gene

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